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Auditory EEG and Behavioral Assessments in Individuals With Rett Syndrome

2026年4月28日 更新者：John Foxe、University of Rochester
This observational research study is designed to learn more about how the brain processes sound in individuals with Rett syndrome. Participants will complete a noninvasive electroencephalogram (EEG) recording while listening to simple sounds through headphones. In addition, parents or caregivers will complete questionnaires and an interview about the participant's symptoms, communication abilities, daily functioning and overall health. The information collected from this study may help researchers better understand brain activity patterns and clinical features associated with Rett syndrome and support future research efforts.

研究概览

地位

招聘中

条件

干预/治疗

详细说明

This study is an observational research project conducted under a broader IRB approved protocol that includes multiple neurodevelopmental and neurodegenerative conditions. The current ClinicalTrials.gov record describes only the Rett syndrome component of the research and reflects the procedures currently being performed for participants with Rett syndrome and age/sex-matched controls.

All participants in this study will undergo a noninvasive electroencephalogram (EEG) recording to measure brain responses to auditory stimuli. During the EEG, participants will listen to simple sounds through headphones while brain activity is recorded. No behavioral responses are required during the EEG recording.

Parents or caregivers of participants with Rett syndrome will complete questionnaires related to the participant's medical history, Rett syndrome symptoms, communication abilities, daily functioning and overall health. A structured interview may also be conducted with the parent/caregiver to assess adaptive behavior. In addition, a Rett syndrome severity scale may be completed by a clinician or trained member of the research team.

Control participants (or their parent/caregiver) will be asked to complete a demographics questionnaire.

This study does not involve assignment to a treatment or intervention, and does not involve the use of FDA regulated drugs or devices. Optional procedures described in the umbrella protocol such as Magnetic Resonance Imaging (MRI) studies are not part of the current Rett syndrome workflow and are not included in this study record.

The primary purpose of this research is to collect observational brain activity and clinical data to better characterize Rett syndrome and to support future scientific and clinical research.

研究类型

观察性的

注册 (估计的)

60

联系人和位置

本节提供了进行研究的人员的详细联系信息，以及有关进行该研究的地点的信息。

学习地点

  • 美国
    • New York
      • Rochester、New York、美国、14620
        • 招聘中
        • Center for Advanced Brain Imaging and Neurophysiology, University of Rochester Medical Center
        • 接触：

参与标准

研究人员寻找符合特定描述的人，称为资格标准。这些标准的一些例子是一个人的一般健康状况或先前的治疗。

资格标准

适合学习的年龄

  • 孩子
  • 成人
  • 年长者

接受健康志愿者

是的

取样方法

非概率样本

研究人群

The study population includes individuals diagnosed with Rett syndrome and age and sex-matched controls who are participating in an observational research study focused on brain activity and clinical characteristics. Rett syndrome participants will undergo a noninvasive EEG recording and their parent or caregiver will complete questionnaires and an interview related to symptoms, communication abilities, daily functioning and overall health. Control participants will also complete a noninvasive EEG recording and they or their parent will complete a demographics questionnaire.

描述

Rett Syndrome Participants:

Inclusion Criteria:

  • Have a clinical diagnosis of classic Rett syndrome
  • Have a pathogenic MECP2 genetic variant confirmed via genetic testing
  • Are past the clinical regression stage
  • Are within the eligible age range for the study (2 years or older)
  • Are able to tolerate the noninvasive EEG recording
  • Parent or caregiver is willing and able to provide parental permission and complete questionnaires and interviews

Exclusion Criteria:

  • Experiences hearing impairment or hearing loss
  • Presence of medical conditions that would prevent safe participation in EEG recording
  • Inability to tolerate EEG procedures
  • Any condition that in the opinion of the investigator would interfere with study participation or data quality

Controls

Inclusion Criteria:

  • Neurologically healthy individuals ages 2 years or older
  • Are able to tolerate the noninvasive EEG recording

Exclusion Criteria:

  • Experiences hearing impairment or hearing loss
  • Medical history of genetic, neurological, or psychiatric disorders
  • History of special education services
  • Inability to tolerate EEG procedures
  • Any condition that in the opinion of the investigator would interfere with study participation or data quality

学习计划

本节提供研究计划的详细信息，包括研究的设计方式和研究的衡量标准。

研究是如何设计的？

设计细节

队列和干预

团体/队列
干预/治疗
Rett Syndrome Participants
Individuals with Rett syndrome who participate in this observational study will undergo a noninvasive electroencephalogram (EEG) recording while listening to simple sounds through headphones. Parents or caregivers will complete questionnaires and interviews related to the participant's symptoms, communication abilities, daily functioning and overall health. A Rett syndrome severity scale may also be completed by a clinician or trained member of the research team.
程序：Electroencephalogram (EEG) Recording
Participants will undergo a noninvasive electroencephalogram (EEG) recording to measure brain activity in response to auditory stimuli. During the procedure, participants will listen to simple sounds through headphones while brain signals are recorded. No behavioral responses are required.
Age- and sex-matched controls
Individuals who are age- and sex-matched to Rett syndrome participants in this study will be enrolled as controls. Control participants must have no medical history of genetic, neurological, or psychiatric disorders, no history of special education services, and no hearing impairment. Control participants in this study will undergo a noninvasive electroencephalogram (EEG) recording while listening to simple sounds through headphones. Control participants (or their parent) will also complete a demographics questionnaire.
程序：Electroencephalogram (EEG) Recording
Participants will undergo a noninvasive electroencephalogram (EEG) recording to measure brain activity in response to auditory stimuli. During the procedure, participants will listen to simple sounds through headphones while brain signals are recorded. No behavioral responses are required.

研究衡量的是什么？

主要结果指标

结果测量
措施说明
大体时间
Mean Auditory Evoked Response Amplitude Measured by EEG
大体时间：Assessed at a single study visit (baseline, up to 1 day)
Auditory evoked brain responses will be assessed using noninvasive electroencephalogram (EEG) recordings while participants listen to simple sounds through headphones. The mean amplitude of auditory evoked responses will be derived from EEG recordings to describe auditory processing in individuals with Rett syndrome.
Assessed at a single study visit (baseline, up to 1 day)
Mean Auditory Evoked Response Latency Measured by EEG
大体时间：Assessed at a single study visit (baseline, up to 1 day)
Auditory evoked brain responses will be assessed using noninvasive electroencephalogram (EEG) recordings while participants listen to simple sounds through headphones. The mean latency of auditory evoked responses will be derived from EEG recordings to describe auditory processing in individuals with Rett syndrome.
Assessed at a single study visit (baseline, up to 1 day)

次要结果测量

结果测量
措施说明
大体时间
Total Score on the Rett Syndrome Severity Scale
大体时间：Assessed at a single study visit (baseline, up to 1 day)
Overall disease severity will be assessed using the Rett Syndrome Severity Scale. The total severity score will be used to describe clinical severity in individuals with Rett syndrome. The scale may be completed by a clinician or trained member of the research team.
Assessed at a single study visit (baseline, up to 1 day)
Adaptive Behavior Composite Score on the Vineland Adaptive Behavior Scales
大体时间：Assessed at a single study visit (baseline, up to 1 day)
Adaptive behavior will be evaluated through a structured caregiver interview using the Vineland Adaptive Behavior Scales. The composite score will be used to describe daily living skills, communication and social functioning.
Assessed at a single study visit (baseline, up to 1 day)
Total Observer-Reported Communication Ability (ORCA) Score
大体时间：Assessed at a single study visit (baseline, up to 1 day)
Communication abilities will be assessed using a caregiver-reported questionnaire called the ORCA which evaluates expressive and receptive communication skills. ORCA total scores will be used to describe communication ability in individuals with Rett syndrome.
Assessed at a single study visit (baseline, up to 1 day)
Total Score on the Rett Syndrome Behavior Questionnaire
大体时间：Assessed at a single study visit (baseline, up to 1 day)
The Rett Syndrome Behavior Questionnaire is a caregiver-reported instrument assessing behavioral and clinical symptoms associated with Rett syndrome. The total questionnaire score will be used to describe symptom severity among participants enrolled in the study.
Assessed at a single study visit (baseline, up to 1 day)
Mean Domain Scores on the Neurodevelopmental Disorders-Health Index (NDD-HI)
大体时间：Assessed at a single study visit (baseline, up to 1 day)
Overall health status will be assessed using a caregiver-reported questionnaire called the Neurodevelopmental Disorders-Health Index (NDD-HI) which measures physical, social and emotional health domains specific to neurodevelopmental disorders. Mean domain scores and a total NDD-HI score will be used to describe health characteristics of participants with Rett syndrome.
Assessed at a single study visit (baseline, up to 1 day)

合作者和调查者

在这里您可以找到参与这项研究的人员和组织。

赞助

University of Rochester

研究记录日期

这些日期跟踪向 ClinicalTrials.gov 提交研究记录和摘要结果的进度。研究记录和报告的结果由国家医学图书馆 (NLM) 审查，以确保它们在发布到公共网站之前符合特定的质量控制标准。

研究主要日期

学习开始 (实际的)

2025年7月31日

初级完成 (估计的)

2027年8月1日

研究完成 (估计的)

2027年8月1日

研究注册日期

首次提交

2026年4月9日

首先提交符合 QC 标准的

2026年4月28日

首次发布 (实际的)

2026年5月6日

研究记录更新

最后更新发布 (实际的)

2026年5月6日

上次提交的符合 QC 标准的更新

2026年4月28日

最后验证

2026年4月1日

更多信息

与本研究相关的术语

关键字

其他相关的 MeSH 术语

其他研究编号

  • STUDY00000920

计划个人参与者数据 (IPD)

计划共享个人参与者数据 (IPD)？

不

药物和器械信息、研究文件

研究美国 FDA 监管的药品

不

研究美国 FDA 监管的设备产品

不

此信息直接从 clinicaltrials.gov 网站检索，没有任何更改。如果您有任何更改、删除或更新研究详细信息的请求，请联系 register@clinicaltrials.gov. clinicaltrials.gov 上实施更改，我们的网站上也会自动更新.

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